| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72791994C>T | CA273577 | TMC1 | c.1333C>T (p.Arg445Cys) c.895C>T (p.Arg299Cys) c.1207C>T (p.Arg403Cys) n.1373C>T n.1631C>T c.1921C>T (p.Arg641Cys) c.1336C>T (p.Arg446Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.72791994C>A | CA373506271 | TMC1 | c.1333C>A (p.Arg445Ser) c.895C>A (p.Arg299Ser) c.1207C>A (p.Arg403Ser) n.1373C>A n.1631C>A c.1921C>A (p.Arg641Ser) c.1336C>A (p.Arg446Ser) | dbSNP gnomAD v4 |
| 9 | g.72791994C= | CA1855107582 | TMC1 | c.1333C= (p.Arg445=) c.895C= (p.Arg299=) c.1207C= (p.Arg403=) n.1373C= n.1631C= c.1921C= (p.Arg641=) c.1336C= (p.Arg446=) | dbSNP |